Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation.

ABSTRACT:

Background

Cell-free DNA (cf-DNA) screening for common trisomies has been increasingly assimilated into prenatal care. In this study, we evaluated the Z-score accuracy and the effectiveness of non-invasive prenatal testing (NIPT) for trisomies 21, 18, and 13 using cf-DNA, and further analyze pregnancy outcomes of NIPT-positive pregnant women.

Methods

This retrospective study analyzed pregnancies that yielded positive NIPT results at Shaoxing Maternity and Child Health Care Hospital between 01/01/2017 and 31/12/2022. Invasive prenatal diagnosis (IPD) confirmed the positive NIPT findings. Logistic regression analysis was applied to correlation analysis of Z-scores and positive predictive value (PPV). Accuracy of Z-score was evaluated through receiver operating characteristic (

SUBMITTER: Sun X 

PROVIDER: S-EPMC12507239 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature